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253175003: Familial aplasia of the vermis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
377069011 Familial aplasia of the vermis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
643903011 Familial aplasia of the vermis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1614451000005117 Familiær aplasi af vermis da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial aplasia of the vermis Is a Aplasia of the vermis (disorder) true Inferred relationship Some
Familial aplasia of the vermis Finding site Cerebellar vermis structure false Inferred relationship Some 2
Familial aplasia of the vermis Occurrence Congenital false Inferred relationship Some
Familial aplasia of the vermis Associated morphology kongenit anomali false Inferred relationship Some 1
Familial aplasia of the vermis Finding site Cerebellar structure false Inferred relationship Some 1
Familial aplasia of the vermis Associated morphology dysgenese false Inferred relationship Some 2
Familial aplasia of the vermis Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Familial aplasia of the vermis Finding site Cerebellar structure false Inferred relationship Some 1
Familial aplasia of the vermis Associated morphology kongenit udviklingsanomali false Inferred relationship Some 1
Familial aplasia of the vermis Finding site Cerebellar structure false Inferred relationship Some 1
Familial aplasia of the vermis Associated morphology kongenit anomali false Inferred relationship Some 1
Familial aplasia of the vermis Associated morphology kongenit udviklingsanomali false Inferred relationship Some 1
Familial aplasia of the vermis Finding site Cerebellar vermis structure false Inferred relationship Some 1
Familial aplasia of the vermis Finding site Cerebellar vermis structure true Inferred relationship Some 1
Familial aplasia of the vermis Associated morphology kongenit udviklingsanomali false Inferred relationship Some 1
Familial aplasia of the vermis Occurrence Congenital false Inferred relationship Some 2
Familial aplasia of the vermis Associated morphology Aplasia false Inferred relationship Some 2
Familial aplasia of the vermis Finding site Cerebellar vermis structure false Inferred relationship Some 2
Familial aplasia of the vermis Associated morphology Aplasia true Inferred relationship Some 1
Familial aplasia of the vermis Occurrence Congenital true Inferred relationship Some 1
Familial aplasia of the vermis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Is a True Familial aplasia of the vermis Inferred relationship Some

Reference Sets

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